ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.-887C>T

gnomAD frequency: 0.01630  dbSNP: rs34465975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512455 SCV001719879 benign Cystic fibrosis 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001512455 SCV002685502 benign Cystic fibrosis 2017-04-05 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002490598 SCV002800079 likely benign Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826605 SCV002080049 benign CFTR-related disorder 2020-01-05 no assertion criteria provided clinical testing

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